| Metadata | |
|---|---|
| ID | DOID:0110123 |
| Name | Bardet-Biedl syndrome 1 |
| Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/20177705 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BBS1 [EXACT] |
| Parent Relationships |